A 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDER

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorGorker, I
dc.contributor.authorGurkan, H.
dc.contributor.authorUlusal, Demir S.
dc.contributor.authorAtli, E.
dc.contributor.authorAtli, Ikbal E.
dc.date.accessioned2024-06-12T10:52:54Z
dc.date.available2024-06-12T10:52:54Z
dc.date.issued2016
dc.departmentTrakya Üniversitesien_US
dc.description.abstractPhelan McDermid Syndrome (PHMDS) (OMIM # 606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM * 606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.en_US
dc.identifier.doi10.1515/bjmg-2016-0041
dc.identifier.endpage89en_US
dc.identifier.issn1311-0160
dc.identifier.issue2en_US
dc.identifier.pmid28289594en_US
dc.identifier.scopus2-s2.0-85015178585en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage85en_US
dc.identifier.urihttps://doi.org/10.1515/bjmg-2016-0041
dc.identifier.urihttps://hdl.handle.net/20.500.14551/18876
dc.identifier.volume19en_US
dc.identifier.wosWOS:000395946300012en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofBalkan Journal Of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAutism Spectrum Disorder (ASD)en_US
dc.subjectPhelan Mcdermid Syndrome (PHMDS)en_US
dc.subject22q13.3 Deletionen_US
dc.subjectDuplicationen_US
dc.titleA 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDERen_US
dc.typeArticleen_US

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